Now showing items 1-8 of 8

    • Common variants in Mendelian kidney disease genes and their association with renal function 

      Parsa A; Fuchsberger C; Köttgen A; O'Seaghdha CM; Pattaro C; de Andrade M; Chasman DI; Teumer A; Endlich K; Olden M; Chen MH; Tin A; Kim YJ; Taliun D; Li M; Feitosa M; Gorski M; Yang Q; Hundertmark C; Foster MC; Glazer N; Isaacs A; Rao M; Smith AV; O'Connell JR; Struchalin M; Tanaka T; Li G; Hwang SJ; Atkinson EJ; Lohman K; Cornelis MC; Johansson A; Tönjes A; Dehghan A; Couraki V; Holliday EG; Sorice R; Kutalik Z; Lehtimäki T; Esko T; Deshmukh H; Ulivi S; Chu AY; Murgia F; Trompet S; Imboden M; Kollerits B; Pistis G; Harris TB; Launer LJ; Aspelund T; Eiriksdottir G; Mitchell BD; Boerwinkle E; Schmidt H; Hofer E; Hu F; Demirkan A; Oostra BA; Turner ST; Ding J; Andrews JS; Freedman BI; Giulianini F; Koenig W; Illig T; Döring A; Wichmann HE; Zgaga L; Zemunik T; Boban M; Minelli C; Wheeler HE; Igl W; Zaboli G; Wild SH; Wright AF; Campbell H; Ellinghaus D; Nöthlings U; Jacobs G; Biffar R; Ernst F; Homuth G; Kroemer HK; Nauck M; Stracke S; Völker U; Völzke H; Kovacs P; Stumvoll M; Mägi R; Hofman A; Uitterlinden AG; Rivadeneira F; Aulchenko YS; Polasek O; Hastie N; Vitart V; Helmer C; Wang JJ; Stengel B; Ruggiero D; Bergmann S; Kähönen M; Viikari J; Nikopensius T; Province M; Colhoun H; Doney A; Robino A; Krämer BK; Portas L; Ford I; Buckley BM; Adam M; Thun GA; Paulweber B; Haun M; Sala C; Mitchell P; Ciullo M; Vollenweider P; Raitakari O; Metspalu A; Palmer C; Gasparini P; Pirastu M; Jukema JW; Probst-Hensch NM; Kronenberg F; Toniolo D; Gudnason V; Shuldiner AR; Coresh J; Schmidt R; Ferrucci L; van Duijn CM; Borecki I; Kardia SL; Liu Y; Curhan GC; Rudan I; Gyllensten U; Wilson JF; Franke A; Pramstaller PP; Rettig R; Prokopenko I; Witteman J; Hayward C; Ridker PM; Bochud M; Heid IM; Siscovick DS; Fox CS; Kao WL; Böger CA (2013)
      Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms ...
    • Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids 

      Ameur A; Enroth S; Johansson A; Zaboli G; Igl W; Johansson AC; Rivas MA; Daly MJ; Schmitz G; Hicks AA; Meitinger T; Feuk L; van Duijn C; Oostra B; Pramstaller PP; Rudan I; Wright AF; Wilson JF; Campbell H; Gyllensten U (2012)
      Omega-3 and omega-6 long-chain polyunsaturated fatty acids (LC-PUFAs) are essential for the development and function of the human brain. They can be obtained directly from food, e.g., fish, or synthesized from precursor ...
    • Genetic determinants of circulating sphingolipid concentrations in European populations 

      Hicks AA; Pramstaller PP; Johansson A; Vitart V; Rudan I; Ugocsai P; Aulchenko Y; Franklin CS; Liebisch G; Erdmann J; Jonasson I; Zorkoltseva IV; Pattaro C; Hayward C; Isaacs A; Hengstenberg C; Campbell S; Gnewuch C; Janssens AC; Kirichenko AV; König IR; Marroni F; Polasek O; Demirkan A; Kolcic I; Schwienbacher C; Igl W; Biloglav Z; Witteman JC; Pichler I; Zaboli G; Axenovich TI; Peters A; Schreiber S; Wichmann HE; Schunkert H; Hastie N; Oostra BA; Wild SH; Meitinger T; Gyllensten U; van Duijn CM; Wilson JF; Wright A; Schmitz G; Campbell H (2009)
      Sphingolipids have essential roles as structural components of cell membranes and in cell signalling, and disruption of their metabolism causes several diseases, with diverse neurological, psychiatric, and metabolic ...
    • Genome-wide association and functional follow-up reveals new loci for kidney function 

      Pattaro C; Köttgen A; Teumer A; Garnaas M; Böger CA; Fuchsberger C; Olden M; Chen MH; Tin A; Taliun D; Li M; Gao X; Gorski M; Yang Q; Hundertmark C; Foster MC; O'Seaghdha CM; Glazer N; Isaacs A; Liu CT; Smith AV; O'Connell JR; Struchalin M; Tanaka T; Li G; Johnson AD; Gierman HJ; Feitosa M; Hwang SJ; Atkinson EJ; Lohman K; Cornelis MC; Johansson Å; Tönjes A; Dehghan A; Chouraki V; Holliday EG; Sorice R; Kutalik Z; Lehtimäki T; Esko T; Deshmukh H; Ulivi S; Chu AY; Murgia F; Trompet S; Imboden M; Kollerits B; Pistis G; CARDIoGRAM Consortium; ICBP Consortium; CARe Consortium; Wellcome Trust Case Control Consortium 2; Harris TB; Launer LJ; Aspelund T; Eiriksdottir G; Mitchell BD; Boerwinkle E; Schmidt H; Cavalieri M; Rao M; Hu FB; Demirkan A; Oostra BA; de Andrade M; Turner ST; Ding J; Andrews JS; Freedman BI; Koenig W; Illig T; Döring A; Wichmann HE; Kolcic I; Zemunik T; Boban M; Minelli C; Wheeler HE; Igl W; Zaboli G; Wild SH; Wright AF; Campbell H; Ellinghaus D; Nöthlings U; Jacobs G; Biffar R; Endlich K; Ernst F; Homuth G; Kroemer HK; Nauck M; Stracke S; Völker U; Völzke H; Kovacs P; Stumvoll M; Mägi R; Hofman A; Uitterlinden AG; Rivadeneira F; Aulchenko YS; Polasek O; Hastie N; Vitart V; Helmer C; Wang JJ; Ruggiero D; Bergmann S; Kähönen M; Viikari J; Nikopensius T; Province M; Ketkar S; Colhoun H; Doney A; Robino A; Giulianini F; Krämer BK; Portas L; Ford I; Buckley BM; Adam M; Thun GA; Paulweber B; Haun M; Sala C; Metzger M; Mitchell P; Ciullo M; Kim SK; Vollenweider P; Raitakari O; Metspalu A; Palmer C; Gasparini P; Pirastu M; Jukema JW; Probst-Hensch NM; Kronenberg F; Toniolo D; Gudnason V; Shuldiner AR; Coresh J; Schmidt R; Ferrucci L; Siscovick DS; van Duijn CM; Borecki I; Kardia SL; Liu Y; Curhan GC; Rudan I; Gyllensten U; Wilson JF; Franke A; Pramstaller PP; Rettig R; Prokopenko I; Witteman JC; Hayward C; Ridker P; Parsa A; Bochud M; Heid IM; Goessling W; Chasman DI; Kao WH; Fox CS (2012)
      Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD ...
    • Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations 

      Demirkan A; van Duijn CM; Ugocsai P; Isaacs A; Pramstaller PP; Liebisch G; Wilson JF; Johansson Å; Rudan I; Aulchenko YS; Kirichenko AV; Janssens AC; Jansen RC; Gnewuch C; Domingues FS; Pattaro C; Wild SH; Jonasson I; Polasek O; Zorkoltseva IV; Hofman A; Karssen LC; Struchalin M; Floyd J; Igl W; Biloglav Z; Broer L; Pfeufer A; Pichler I; Campbell S; Zaboli G; Kolcic I; Rivadeneira F; Huffman J; Hastie ND; Uitterlinden A; Franke L; Franklin CS; Vitart V; DIAGRAM Consortium; Nelson CP; Preuss M; CARDIoGRAM Consortium; Bis JC; O'Donnell CJ; Franceschini N; CHARGE Consortium; Witteman JC; Axenovich T; Oostra BA; Meitinger T; Hicks AA; Hayward C; Wright AF; Gyllensten U; Campbell H; Schmitz G; EUROSPAN Consortium (2012)
      Phospho- and sphingolipids are crucial cellular and intracellular compounds. These lipids are required for active transport, a number of enzymatic processes, membrane formation, and cell signalling. Disruption of their ...
    • Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function 

      Chasman DI; Fuchsberger C; Pattaro C; Teumer A; Böger CA; Endlich K; Olden M; Chen MH; Tin A; Taliun D; Li M; Gao X; Gorski M; Yang Q; Hundertmark C; Foster MC; O'Seaghdha CM; Glazer N; Isaacs A; Liu CT; Smith AV; O'Connell JR; Struchalin M; Tanaka T; Li G; Johnson AD; Gierman HJ; Feitosa MF; Hwang SJ; Atkinson EJ; Lohman K; Cornelis MC; Johansson A; Tönjes A; Dehghan A; Lambert JC; Holliday EG; Sorice R; Kutalik Z; Lehtimäki T; Esko T; Deshmukh H; Ulivi S; Chu AY; Murgia F; Trompet S; Imboden M; Coassin S; Pistis G; CARDIoGRAM Consortium; ICBP Consortium; CARe Consortium; WTCCC2; Harris TB; Launer LJ; Aspelund T; Eiriksdottir G; Mitchell BD; Boerwinkle E; Schmidt H; Cavalieri M; Rao M; Hu F; Demirkan A; Oostra BA; de Andrade M; Turner ST; Ding J; Andrews JS; Freedman BI; Giulianini F; Koenig W; Illig T; Meisinger C; Gieger C; Zgaga L; Zemunik T; Boban M; Minelli C; Wheeler HE; Igl W; Zaboli G; Wild SH; Wright AF; Campbell H; Ellinghaus D; Nöthlings U; Jacobs G; Biffar R; Ernst F; Homuth G; Kroemer HK; Nauck M; Stracke S; Völker U; Völzke H; Kovacs P; Stumvoll M; Mägi R; Hofman A; Uitterlinden AG; Rivadeneira F; Aulchenko YS; Polasek O; Hastie N; Vitart V; Helmer C; Wang JJ; Stengel B; Ruggiero D; Bergmann S; Kähönen M; Viikari J; Nikopensius T; Province M; Ketkar S; Colhoun H; Doney A; Robino A; Krämer BK; Portas L; Ford I; Buckley BM; Adam M; Thun GA; Paulweber B; Haun M; Sala C; Mitchell P; Ciullo M; Kim SK; Vollenweider P; Raitakari O; Metspalu A; Palmer C; Gasparini P; Pirastu M; Jukema JW; Probst-Hensch NM; Kronenberg F; Toniolo D; Gudnason V; Shuldiner AR; Coresh J; Schmidt R; Ferrucci L; Siscovick DS; van Duijn CM; Borecki IB; Kardia SL; Liu Y; Curhan GC; Rudan I; Gyllensten U; Wilson JF; Franke A; Pramstaller PP; Rettig R; Prokopenko I; Witteman J; Hayward C; Ridker PM; Parsa A; Bochud M; Heid IM; Kao WH; Fox CS; Köttgen A (2012)
      In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits. To discover novel associations with estimated ...
    • New loci associated with kidney function and chronic kidney disease 

      Köttgen A; Pattaro C; Böger CA; Fuchsberger C; Olden M; Glazer NL; Parsa A; Gao X; Yang Q; Smith AV; O'Connell JR; Li M; Schmidt H; Tanaka T; Isaacs A; Ketkar S; Hwang SJ; Johnson AD; Dehghan A; Teumer A; Paré G; Atkinson EJ; Zeller T; Lohman K; Cornelis MC; Probst-Hensch NM; Kronenberg F; Tönjes A; Hayward C; Aspelund T; Eiriksdottir G; Launer LJ; Harris TB; Rampersaud E; Mitchell BD; Arking DE; Boerwinkle E; Struchalin M; Cavalieri M; Singleton A; Giallauria F; Metter J; de Boer IH; Haritunians T; Lumley T; Siscovick D; Psaty BM; Zillikens MC; Oostra BA; Feitosa M; Province M; de Andrade M; Turner ST; Schillert A; Ziegler A; Wild PS; Schnabel RB; Wilde S; Munzel TF; Leak TS; Illig T; Klopp N; Meisinger C; Wichmann HE; Koenig W; Zgaga L; Zemunik T; Kolcic I; Minelli C; Hu FB; Johansson A; Igl W; Zaboli G; Wild SH; Wright AF; Campbell H; Ellinghaus D; Schreiber S; Aulchenko YS; Felix JF; Rivadeneira F; Uitterlinden AG; Hofman A; Imboden M; Nitsch D; Brandstätter A; Kollerits B; Kedenko L; Mägi R; Stumvoll M; Kovacs P; Boban M; Campbell S; Endlich K; Völzke H; Kroemer HK; Nauck M; Völker U; Polasek O; Vitart V; Badola S; Parker AN; Ridker PM; Kardia SL; Blankenberg S; Liu Y; Curhan GC; Franke A; Rochat T; Paulweber B; Prokopenko I; Wang W; Gudnason V; Shuldiner AR; Coresh J; Schmidt R; Ferrucci L; Shlipak MG; van Duijn CM; Borecki I; Krämer BK; Rudan I; Gyllensten U; Wilson JF; Witteman JC; Pramstaller PP; Rettig R; Hastie N; Chasman DI; Kao WH; Heid IM; Fox CS (2010)
      Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed a meta-analysis of genome-wide association ...
    • Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits 

      Zaboli G; Ameur A; Igl W; Johansson Å; Hayward C; Vitart V; Campbell S; Zgaga L; Polasek O; Schmitz G; van Duijn C; Oostra B; Pramstaller P; Hicks A; Meitinger T; Rudan I; Wright A; Wilson JF; Campbell H; Gyllensten U; EUROSPAN Consortium (2012)
      We have used targeted genomic sequencing of high-complexity DNA pools based on long-range PCR and deep DNA sequencing by the SOLiD technology. The method was used for sequencing of 286 kb from four chromosomal regions with ...